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  2. WWOX - WW domain containing oxidoreductase Gene

WWOX - WW domain containing oxidoreductase Gene

中文名称:含 WW 结构域氧化还原酶

种属: Homo sapiens

同用名: FOR; WOX1; DEE28; EIEE28; FRA16D; SCAR12; HHCMA56; PRO0128; SDR41C1; D16S432E

基因 ID: 51741 | 基因类型: protein coding

关于 WWOX

Cytogenetic location: 16q23.1-q23.2 Genomic coordinates (GRCh38): 16:78,099,654-79,212,667 (from NCBI)

This gene has 25 transcripts (splice variants), 205 orthologues, 25 paralogues and is associated with 9 phenotypes. Ubiquitous expression in thyroid (RPKM 4.4), kidney (RPKM 2.1) and 25 other tissues.

功能概要

该基因编码短链脱氢酶/还原酶 (SDR) 蛋白家族的成员。该基因跨越 FRA16D 常见染色体脆弱位点,似乎起着肿瘤抑制基因的作用。编码蛋白的表达能够诱导细胞凋亡,而该基因的缺陷与多种类型的癌症有关。该基因的破坏也与常染色体隐性脊髓小脑性共济失调 12 有关。小鼠中类似基因的破坏导致类固醇生成受损,另外表明该蛋白质具有代谢功能。可变剪接导致多个转录本变体。[RefSeq 提供,2014 年 5 月]

This gene encodes a member of the short-chain dehydrogenases/reductases (SDR) protein family. This gene spans the FRA16D common chromosomal fragile site and appears to function as a tumor suppressor gene. Expression of the encoded protein is able to induce Apoptosis, while defects in this gene are associated with multiple types of Cancer. Disruption of this gene is also associated with autosomal recessive spinocerebellar ataxia 12. Disruption of a similar gene in mouse results in impaired steroidogenesis, additionally suggesting a metabolic function for the protein. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2014]

WWOX 基因产物(3)

mRNA Protein Name
NM_001291997.2 NP_001278926.1 WW domain-containing oxidoreductase isoform 4
NM_016373.4 NP_057457.1 WW domain-containing oxidoreductase isoform 1
NM_130791.5 NP_570607.1 WW domain-containing oxidoreductase isoform 2
基因本体论
  • 分子功能
  • 生物过程
  • 细胞组分
分子功能 GO 注释 逻辑证据 参考文献 来源
enables enzyme binding IPI
IPI: 通过物理相互作用推断
19366691 GOA
enables identical protein binding IPI
IPI: 通过物理相互作用推断
32296183 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
15064722 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in cellular response to transforming growth factor beta stimulus IDA
IDA: 通过直接分析推断
19366691 GOA
involved in negative regulation of Wnt signaling pathway IDA
IDA: 通过直接分析推断
19465938 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in Golgi apparatus IDA
IDA: 通过直接分析推断
15064722 GOA
located in cytoplasm IDA
IDA: 通过直接分析推断
19465938 GOA
located in cytosol IDA
IDA: 通过直接分析推断
19366691 GOA
colocalizes with microvillus IDA
IDA: 通过直接分析推断
19366691 GOA
located in nucleus IDA
IDA: 通过直接分析推断
19366691 GOA
colocalizes with plasma membrane IDA
IDA: 通过直接分析推断
19366691 GOA
EXP:通过实验结果推断 IDA:通过直接分析推断 IPI:通过物理相互作用推断 IMP:通过突变表型推断 IGI:通过遗传相互作用推断 IEP:通过表达模式推断

WWOX 蛋白结构

WW

WW: WW domain (18 - 47)

WW

WW: WW domain (59 - 88)

adh_short

adh_short: short chain dehydrogenase (125 - 263)

  • 0
  • 100
  • 200
  • 300
  • 414 a.a.
蛋白主名 其他名称

WW domain-containing oxidoreductase

WW domain-containing protein WWOX

WWOX 蛋白互作信息

分类
蛋白名称 蛋白编号 互作蛋白 互作蛋白种属 互作蛋白编号 实验方法 参考文献
Intra WWOX Q9NZC7 SHISA5 Homo sapiens Q8N114
Protein Array
15064722
Intra WWOX Q9NZC7 TP53 Homo sapiens P04637
Anti Bait CoIP
15580310
Intra WWOX Q9NZC7 WBP1 Homo sapiens Q96G27
Pull Down
15064722
Intra WWOX Q9NZC7 WBP1 Homo sapiens Q96G27
Protein Array
15064722
Intra WWOX Q9NZC7 TP73 Homo sapiens O15350
Anti Tag CoIP
30285739
Intra WWOX Q9NZC7 TP73 Homo sapiens O15350
Anti Bait CoIP
15070730
Intra WWOX Q9NZC7 TP73 Homo sapiens O15350-1
Anti Tag CoIP
15070730
Intra WWOX Q9NZC7 TP73 Homo sapiens O15350-1
IF
15070730
Intra WWOX Q9NZC7 TP73 Homo sapiens O15350-2
Pull Down
15070730
Intra WWOX Q9NZC7 TP73 Homo sapiens O15350-2
Anti Tag CoIP
15070730
Intra WWOX Q9NZC7 ENTREP3 Homo sapiens P81408
Far-WB
15064722
Intra WWOX Q9NZC7 ENTREP3 Homo sapiens P81408
Anti Tag CoIP
33961781
Intra WWOX Q9NZC7 VOPP1 Homo sapiens Q96AW1
IF
30285739
Intra WWOX Q9NZC7 VOPP1 Homo sapiens Q96AW1
Anti Bait CoIP
30285739
Intra WWOX Q9NZC7 VOPP1 Homo sapiens Q96AW1
Anti Tag CoIP
30285739
Intra WWOX Q9NZC7 LITAF Homo sapiens Q99732
Protein Array
15064722
Intra WWOX Q9NZC7 LITAF Homo sapiens Q99732
Pull Down
15064722
种属间: 跨种属相互作用 种属内: 同种属相互作用

关联疾病

疾病名称 别名
Spinocerebellar Ataxia, Autosomal Recessive 12

Autosomal Recessive Spinocerebellar Ataxia 12

SCAR12

Spinocerebellar Ataxia With Mental Retardation And Epilepsy

Autosomal Recessive Cerebellar Ataxia-Epilepsy-Intellectual Disability Syndrome Due To Wwox Deficiency

Autosomal Recessive Spinocerebellar Ataxia Type 12

Spinocerebellar Ataxia, Autosomal Recessive, 12

Ataxia, Spinocerebellar, Autosomal Recessive, Type 12

Developmental And Epileptic Encephalopathy 28

DEE28

Epileptic Encephalopathy, Early Infantile, 28

Eiee28

Developmental And Epileptic Encephalopathy, 28

Early Infantile Epileptic Encephalopathy 28

Encephalopathy, Epileptic, Early Infantile, Type 28

Esophageal Cancer

Esophageal Carcinoma

Carcinoma Of Esophagus

Esophageal Squamous Cell Carcinoma, Somatic

Esophageal Carcinoma, Somatic

Esophagus Cancer

Gastric Cardia Adenocarcinoma

Esophageal Neoplasms

Esophageal Cancer, Somatic

Cancer Of Esophagus

Cancer Of Oesophagus

Carcinoma Of Oesophagus

Ca Lower Third Oesophagus

Ca Middle Third Oesophagus

Malignant Neoplasm Of Distal Third Of Esophagus

Malignant Neoplasm Of Lower Third Of Oesophagus

Malignant Neoplasm Of Middle Third Of Oesophagus

Malignant Neoplasm Of Proximal Third Of Esophagus

Malignant Neoplasm Of Upper Third Esophagus

Malignant Tumor Of Abdominal Esophagus

Malignant Tumor Of Distal Third Of Esophagus

Malignant Tumor Of Proximal Third Of Esophagus

Malignant Tumor Of The Middle Third Of The Esophagus

ESCR

Aerodigestive Tract Cancer

Escc

Esophageal Squamous Cell Carcinoma

Cancer, Esophageal

Malignant Neoplasm Of Esophagus

Squamous Cell Carcinoma Of Esophagus

Malignant Neoplasm Of Middle Third Of Esophagus

Developmental And Epileptic Encephalopathy 1

Epileptic Encephalopathy, Early Infantile, 1

Infantile Epileptic-Dyskinetic Encephalopathy

DEE1

Eiee1

Issx1

Xmesid

X-Linked Infantile Spasm Syndrome 1

X-Linked Infantile Spasm Syndrome

X-Linked Spasticity-Intellectual Disability-Epilepsy Syndrome

Developmental And Epileptic Encephalopathy, 1

Infantile Epileptic Dyskinetic Encephalopathy

Infantile Spasm Syndrome, X-Linked 1

West Syndrome, X-Linked

Ohtahara Syndrome, X-Linked

Early Infantile Epileptic Encephalopathy 1

Early Infantile Epileptic Encephalopathy-1

Issx

X-Linked Ohtahara Syndrome

X-Linked West Syndrome

Infantile Spasm Syndrome X-Linked 1

Myoclonic Epilepsy X-Linked With Intellectual Disability And Spasticity

Ohtahara Syndrome X-Linked

West Syndrome X-Linked

Encephalopathy, Epileptic, Early Infantile, Type 1

West Syndrome

Infantile Spasms

Infantile Spasms Syndrome

Infantile Spasm

X-Linked Infantile Spasm Syndrome

X-Linked Infantile Spasms

Epileptic Encephalopathy, Early Infantile, 1

Is

Tonic Spasms With Clustering, Arrest Of Psychomotor Development And Hypsarrhythmia On Eeg

West'S Syndrome

Spasms, Infantile

Is -[Infantile Spasm]

Salaam Spasm

Salaam Tic

Epilepsy

Epilepsy Syndrome

Epileptic Syndrome

Epilepsies

Symptomatic Epilepsies

Post Traumatic Epilepsy

Traumatic Epilepsy

Traumatic Epileptic

Epilepsy Due To Hippocampal Sclerosis

Epilepsy With Ammon'S Horn Sclerosis

Epilepsy Due To Cortical Dysplasia

Epilepsy Due To Neuronal Migration Disorders

46,Xy Partial Gonadal Dysgenesis

46,Xy Pgd

46,Xy Partial Testicular Dysgenesis

Benign Epilepsy With Centrotemporal Spikes

Rolandic Epilepsy

Benign Rolandic Epilepsy

Epilepsy, Rolandic

Bcects

Benign Childhood Epilepsy With Centrotemporal Spike

Sylvan Seizures

Becrs

Bects

Bre

Benign Epilepsy Of Childhood With Centrotemporal Spikes

Benign Familial Epilepsy Of Childhood With Rolandic Spikes

Centrotemporal Epilepsy

Non-Specific Early-Onset Epileptic Encephalopathy

Undetermined Early-Onset Epileptic Encephalopathy

Non-Specific Eoee

Undetermined Eoee

Spinocerebellar Ataxia 12

Spinocerebellar Ataxia Type 12

SCA12

Ataxia, Spinocerebellar, Type 12

Periosteal Osteogenic Sarcoma

Periosteal Osteosarcoma

Parosteal Osteosarcoma

Esophagus Squamous Cell Carcinoma

Esophageal Squamous Cell Carcinoma

Oesophagus Squamous Cell Carcinoma

Scc Of Esophagus

Scc Of Oesophagus

Squamous Cell Carcinoma Of The Esophagus

Escc

Esophageal Epidermoid Carcinoma

Squamous Cell Esophageal Cancer

Squamous Cell Carcinoma Of Esophagus

Congenital Nervous System Abnormality

Congenital Neurologic Anomaly

Congenital Nervous System Disorder

Nervous System Disease

Abnormality Of The Nervous System

Nervous System Diseases

Nervous System Disorder

Dyssegmental Dysplasia, Silverman-Handmaker Type

DDSH

Silverman-Handmaker Type Dyssegmental Dysplasia

Dyssegmental Dysplasia Silverman-Handmaker Type

Dyssegmental Dwarfism Silverman-Handmaker Type

Dyssegmental Dwarfism, Silverman-Handmaker Type

Anisospondylic Camptomicromelic Dwarfism, Silverman-Handmaker Type

Anisospondylic Camptomicromelic Dwarfism Silverman-Handmaker Type

Dysplasia, Dyssegmental, Silverman-Handmaker Type

Squamous Cell Carcinoma

Epidermoid Carcinoma

Squamous Cell Cancer

Carcinoma, Squamous Cell

Squamous Cell Skin Cancer

Malignant Squamous Cell Tumor

Squamous Carcinoma

Squamous Cell Epithelioma

Carcinoma Squamous Cell

Neoplasms, Squamous Cell

Squamous Cell Carcinoma - Category

Malignant Squamous Cell Neoplasm

Squamous Cell Carcinoma Of Skin

Adenocarcinoma

Adenocarcinomas

Adenoacanthoma Of Unspecified Site

Adenocarcinoid Of Unspecified Site

Adenocarcinoid Tumour Of Unspecified Site

Adenocarcinoma And Carcinoid Combined Of Unspecified Site

Adenocarcinoma Nos

Developmental And Epileptic Encephalopathy 84

DEE84

Jamuar Syndrome

Eiee84

Developmental And Epileptic Encephalopathy, 84

Epileptic Encephalopathy, Early Ifantile, 84

Early Infantile Epileptic Encephalopathy 84

Epileptic Encephalopathy, Early Infantile, 84

Encephalopathy, Epileptic, Early Infantile, Type 84

Breast Cancer

Breast Carcinoma

Male Breast Cancer

Breast Cancer, Familial

Malignant Neoplasm Of Breast

Breast Cancer, Susceptibility To

Breast Cancer, Early-Onset

Malignant Tumor Of Breast

Carcinoma Of Male Breast

Breast Cancer, Invasive Ductal

Breast Cancer, Protection Against

Breast Cancer, Somatic

Breast Cancer, Male

Breast Cancer, Lobular, Somatic

Breast Tumor

Mammary Cancer

Mammary Tumor

Malignant Neoplasm Of Male Breast

Mammary Carcinoma

Male Breast Carcinoma

Familial Cancer Of Breast

Invasive Ductal Breast Carcinoma

Breast Cancer Susceptibility

Breast Cancer, Male, Susceptibility To

Breast Cancer, Early-Onset, Susceptibility To

Malignant Tumor Of The Breast

Mammary Neoplasm

Primary Breast Cancer

Neoplasm Of Male Breast

Carcinoma Of Breast

Breast Cancer In Men

Familial Breast Cancer

Cancer Of Breast

BC

Breast Cancer Familial

Breast Cancer Familial Male

Breast Cancer, Familial Male

Breast Male Carcinoma

Breast Neoplasms

Breast Neoplasms, Male

Mammary Tumors

Mammary Carcinomas

Cancer, Breast

Cancer, Breast, Susceptibility

Invasive Breast Ductal Carcinoma

Breast Neoplasm

Susceptibility To Breast Cancer

Mammary Neoplasms

Animal Mammary Neoplasms

Primary Malignant Neoplasm Of Breast

Infiltrating Ductal Carcinoma Of Breast

Infiltrating Duct Carcinoma Of Unspecified Site

Infiltrating Ductular Carcinoma Of Unspecified Site

Invasive Breast Carcinoma Of No Special Type

Microinvasive Carcinoma Of Breast

Carcinoma With Apocrine Differentiation

Epilepsy With Generalized Tonic-Clonic Seizures

Tonic-Clonic Epilepsy

Epileptic Seizures, Tonic-Clonic

Grand Mal Epilepsy

Epilepsy, Tonic-Clonic

Developmental And Epileptic Encephalopathy

Encephalopathy, Developmental And Epileptic

Hereditary Spastic Paraplegia 51

Autosomal Dominant Spastic Paraplegia 51

Cpsq4

Spastic Quadriplegic Cerebral Palsy 4

Spg51

Spastic Paraplegia 51, Autosomal Recessive

Encephalopathy, Neonatal Severe, Due To Mecp2 Mutations

Severe Congenital Encephalopathy Due To Mecp2 Mutation

Severe Neonatal-Onset Encephalopathy With Microcephaly

Encephalopathy, Neonatal Severe

Neonatal Severe Encephalopathy Due To Mecp2 Mutations

Mecp2-Related Severe Neonatal Encephalopathy

Methyl-Cytosine Phosphate Guanine Binding Protein 2 Related Severe Neonatal Encephalopathy

Severe Neonatal Encephalopathy Due To Mecp2 Mutations

ENS-MECP2

Encephalopathy, Neonatal, Severe

Peripheral Osteosarcoma

Surface Osteosarcoma

Bone Surface Osteosarcoma

Chronic Fatigue Syndrome

Myalgic Encephalomyelitis

Postviral Fatigue Syndrome

Cfs

Myalgic Encephalitis

Encephalomyelitis, Myalgic

Chronic Fatigue

Fatigue Syndrome, Chronic

Benign Myalgic Encephalomyelitis

Akureyri

Akureyri Disease

Cfs - [Chronic Fatigue Syndrome]

Epidemic Neuromyasthenia

Myalgic Encephalomyelitis Syndrome

Me - [Myalgic Encephalomyelitis]

Pvfs - [Postviral Fatigue Syndrome]

Neuromyasthenia

Iceland Disease

Icelandic Disease

Ovarian Cancer

Ovarian Carcinoma

Ovarian Neoplasm

Malignant Tumour Of Ovary

Cancer Of The Ovary

Epithelial Ovarian Cancer

Neoplasm Of Ovary

Ovarian Neoplasms

Ovarian Cancers

Malignant Neoplasm Of Ovary

Primary Malignant Neoplasm Of Ovary

Ovarian Cancer, Somatic

Malignant Ovarian Tumor

Ovary Neoplasm

Primary Ovarian Cancer

Tumor Of The Ovary

Malignant Neoplasm Of The Ovary

Malignant Tumor Of The Ovary

Ovarian Malignant Tumor

OC

Ovarian Carcinomas

Cancer, Ovarian

Cancer Of Ovary

Ovary Cancer

Ca Ovary

Retinal Degeneration

Degeneration Of Retina

Early Infantile Epileptic Encephalopathy

Early Infantile Epileptic Encephalopathy With Burst-Suppression

Early Infantile Epileptic Encephalopathy With Suppression Bursts

Eiee

Early Infantile Epileptic Encephalopathy With Suppression-Bursts

Ohtahara Syndrome

Encephalopathy, Epileptic, Early Infantile

Microcephaly

Microencephaly

Microcephalus

Microcephalic

Nanocephaly

Congenital Microcephaly

Brain Hypoplasia

Brain Nondevelopment

Cephalic Hypoplasia

Undeveloped Cerebrum

Undeveloped Brain

Micrencephalon

Micrencephaly

Retinitis Pigmentosa

RP

Rod-Cone Dystrophy

Autosomal Recessive Retinitis Pigmentosa

Non-Syndromic Retinitis Pigmentosa

Pericentral Pigmentary Retinopathy

Pigmentary Retinopathy

Tapetoretinal Degeneration

Rcd

Retinitis Pigmentosa Autosomal Recessive

ARRP

Retinitis Pigmentosa, Autosomal Recessive

Retinitis Pigmentosa 1

疾病名称 别名
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

直系同源

种属 基因名 来源 基因 ID
Macaca mulatta WWOX VGNC VGNC:78805
Rattus norvegicus WWOX RGD RGD:1309927
Mus musculus WWOX MGD MGI:1931237
Canis familiaris WWOX VGNC VGNC:48442
Bos taurus WWOX VGNC VGNC:36977